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Liu, D. KDM6A Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4313 (accessed on 28 September 2026).
Liu D. KDM6A Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4313. Accessed September 28, 2026.
Liu, Dean. "KDM6A Gene" Encyclopedia, https://encyclopedia.pub/entry/4313 (accessed September 28, 2026).
Liu, D. (2020, December 23). KDM6A Gene. In Encyclopedia. https://encyclopedia.pub/entry/4313
Liu, Dean. "KDM6A Gene." Encyclopedia. Web. 23 December, 2020.
KDM6A Gene
Edit

Lysine demethylase 6A

genes

References

  1. Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKeeS, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D. Novel KDM6A (UTX) mutations and aclinical and molecular review of the X-linked Kabuki syndrome (KS2). Clin Genet. 2015 Mar;87(3):252-8. doi: 10.1111/cge.12363.
  2. Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, MaystadtI, Dallapiccola B, Verellen-Dumoulin C. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet.2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021.
  3. Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P,Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, MonicaMD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG,Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, DiBattista E, Vancini A, Garavelli L, Zelante L, Merla G. Molecular analysis,pathogenic mechanisms, and readthrough therapy on a large cohort of Kabukisyndrome patients. Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547.
  4. Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J,Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. MLL2 and KDM6A mutations inpatients with Kabuki syndrome. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi:10.1002/ajmg.a.36072.
  5. Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y,Nakashima M, Saitsu H, Niikawa N, Matsumoto N. KDM6A point mutations cause Kabukisyndrome. Hum Mutat. 2013 Jan;34(1):108-10. doi: 10.1002/humu.22229.
  6. Robertson AG, Kim J, Al-Ahmadie H, Bellmunt J, Guo G, Cherniack AD, Hinoue T, Laird PW, Hoadley KA, Akbani R, Castro MAA, Gibb EA, Kanchi RS, Gordenin DA,Shukla SA, Sanchez-Vega F, Hansel DE, Czerniak BA, Reuter VE, Su X, de SaCarvalho B, Chagas VS, Mungall KL, Sadeghi S, Pedamallu CS, Lu Y, Klimczak LJ,Zhang J, Choo C, Ojesina AI, Bullman S, Leraas KM, Lichtenberg TM, Wu CJ, SchultzN, Getz G, Meyerson M, Mills GB, McConkey DJ; TCGA Research Network, WeinsteinJN, Kwiatkowski DJ, Lerner SP. Comprehensive Molecular Characterization ofMuscle-Invasive Bladder Cancer. Cell. 2018 Aug 9;174(4):1033. doi:10.1016/j.cell.2018.07.036.
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